5-74685274-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000521.4(HEXB):c.14G>A(p.Gly5Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000937 in 1,388,096 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (no stars).
Frequency
Consequence
NM_000521.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HEXB | ENST00000261416.12 | c.14G>A | p.Gly5Glu | missense_variant | Exon 1 of 14 | 1 | NM_000521.4 | ENSP00000261416.7 | ||
HEXB | ENST00000511181.5 | c.-376-4054G>A | intron_variant | Intron 1 of 13 | 1 | ENSP00000426285.1 | ||||
HEXB | ENST00000513079.5 | n.79G>A | non_coding_transcript_exon_variant | Exon 1 of 6 | 2 | |||||
HEXB | ENST00000515528.1 | n.69G>A | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD3 exomes AF: 0.00000719 AC: 1AN: 139060Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 76522
GnomAD4 exome AF: 0.00000937 AC: 13AN: 1388096Hom.: 0 Cov.: 30 AF XY: 0.0000131 AC XY: 9AN XY: 685594
GnomAD4 genome Cov.: 31
ClinVar
Submissions by phenotype
Sandhoff disease Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at